title: Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature.
abstract: Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most common features include: psychomotor impairment, facial dysmorphism, and thrombocytopenia. Cleft palate has been rarely reported. A case of Jacobsen syndrome confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were phonological disorder, submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI). VPI was corrected surgically according to findings of videonasopharyngoscopy and videofluoroscopy. It is concluded that clinicians should consider that VPI associated with SMCP may be the main manifestations of a chromosomal syndrome.
authors.affiliation: Beaumont Health System, Royal Oak, MI, USA. antonio.ysunza@beaumont.edu
authors.forename: Antonio
authors.initials: A
authors.lastname: Ysunza
authors.forename: Kenneth
authors.initials: K
authors.lastname: Shaheen
authors.forename: David J
authors.initials: DJ
authors.lastname: Aughton
authors.forename: Mark A
authors.initials: MA
authors.lastname: Micale
authors.forename: Richard
authors.initials: R
authors.lastname: Merson
authors.forename: Kris
authors.initials: K
authors.lastname: Rutkowski
mesh_terms: D001184:Articulation Disorders / Q000175:diagnosis* / Q000628:therapy; D002648:Child; D002933:Cineradiography / Q000379:methods; D002972:Cleft Palate / Q000175:diagnosis* / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000175:diagnosis* / Q000628:therapy; D007828:Laryngoscopy / Q000379:methods; D035583:Rare Diseases; D014681:Velopharyngeal Insufficiency / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery
keywords: Cleft palate; Jacobsen syndrome; Speech; Surgery